A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease—Results from Six Years of Genetic Newborn Screening
The flexibility of multiplex qPCR is assessed as an effective tool for incorporating different molecular genetic markers for screening. The processing of dried blood spot (DBS) filter cards for molecular genetic assays and the assays are described in detail; turn-around times and cost estimations are included to give an insight into the processes and discuss further options for optimization. The identified cases are in the range expected for the total number of screened newborns, but present a more exact view on the actual prevalences for Germany.
Authors
- Marc Becker
- Ludwig Czibere (ORCID: https://orcid.org/0000-0002-7508-5841)
- Nina Pauly (ORCID: https://orcid.org/0000-0003-1726-8997)
- Esther M. Maier (ORCID: https://orcid.org/0000-0002-4954-4901)
- Wulf Röschinger
- Siegfried Burggraf (ORCID: https://orcid.org/0000-0002-2116-0156)
- Jessica Bzdok (ORCID: https://orcid.org/0009-0006-7750-8808)
- Jürgen Durner
Institutions
- TIB Molbiol (Germany) (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Genes
- Published
- 2024-11-13
- DOI
- https://doi.org/10.3390/genes15111467
- Citations
- 7
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 3.07